摘要目的 研究青岛地区汉族人群中生长分化因子5(growth and differentiation factor 5,GDF5)基因核心启动子区域+104T＞C;rs143383单核苷酸多态性与脊柱融合的相关性.方法 研究对象为需行脊柱融合术患者和健康志愿者共401名,脊柱融合患者201例(病例组),健康志愿者200名(对照组).采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)及测序技术,检测201例脊柱融合患者和200名健康志愿者外周血中GDF5基因+104T＞C多态性情况,根据临床常用的融合标准,对病例组术后进行影像学评估,并采用SPSS 17.0进行行×列表格的x2检验,分析其与脊柱融合术后植骨融合情况之间的关系.结果 病例组和对照组均存在+104T＞C单核苷酸多态性,其多态性在病例组和对照组分布的差异无统计学意义,但融合组与非融合组TC+CC基因型与TT基因型差异有统计学意义,且TC+CC基因型组融合速度快于TT基因型组,差异有统计学意义.结论 病例组手术方式、植骨材料及术后处理相同,尽可能减少了外界不同条件的干扰,说明青岛地区汉族人群中GDF5基因核心启动子区+104T＞C等位基因与脊柱融合效果有相关性,C等位基因可能是促进脊柱融合的一个重要因素.早期发现TT基因型基因,早期干预,可提高脊柱融合效果.

abstractsObjective To investigate the relationship between a functional single nucleotide polymorphisms(SNP) in the core promoter region of GDF5 gene(+104T＞c ;rs143383) and spinal fusion in Qingdao Han people. Methods This study included 201 patients who needed to be treated with spinal fusion and 200 healthy controls. They were all out of tuberculosis, tumor, infection, and long time of related medicine using. Their operation regions were similar, containing L4.5, C4.5, C5.6, and C6.7. The SNP was defined in all people, using PCR-restriction fragment length polymorphism (RFLP) and gene sequencing. The patients were followed-up 3,6, 12 months after operation. The conditions of bone graft fusion were carried out into different grades according to imaging. According to the common used fusion criterion, to analyze the relationship between this SNP and spinal fusion. Results The results obtained from PCR-RFLP were confirmed by gene sequencing. The patients and the healthy control all showed the SNP in this site. There were no relationship between the spinal fusion patients and the healthy control in the SNP (x2=0.304, P=0.859). But it showed correlation (x2=4.752, P=0.023) with fusing or not in the spine and the speed of fusion (x2=9.864, P=0.007)in Qingdao Han people. In the fusion group, the site rs143383 showed more C allele than the non-fusion group. T allele may affect the transcription of GDF5, thus reduce the expression of GDF5. Patients with the genotype TC+CC showed larger proportion stable fusion and faster speed than the patients with TT. Conclusion SNP in the core promoter region of GDF5 (+104T＞C) is associated with spinal fusion in Qingdao Han people. The allele C may be an important factor to promote spinal fusion. Detect the TT genotype early and intervene, the spinal fusion effect may be improved. Or, the genotype may be changed by gene technology,making the efficient fusion.